Lucia Diaz, MD Assistant Professor of Dermatology Dell Children s Medical Center University of Texas Dell Medical School

Lucia Diaz, MD Assistant Professor of Dermatology Dell Children s Medical Center University of Texas Dell Medical School I HAVE NO RELEVENT RELATIONSHIPS WITH ANY COMPANIES

The most likely diagnosis is: A. Basal cell nevus syndrome B. Cryptococcosis C. Molluscum contagiosum D. Trichoepitheliomas E. Verruca vulgaris

Molluscum Contagiosum Umbilicated, dome-shaped papules, often multiple, can koebnerize Infection caused by a poxvirus May be present for few months to years 5-7% of children, increasing prevalence Molluscum dermatitis, inflamed molluscum Treatment: Observe, LN2, cantharidin, intralesional immunotherapy, curettage, imiquimod, topical retinoids, and multiple others

Fungal infections in immunocompromised can mimic molluscum Cryptococcus, Histoplasmosis, Coccidiomycosis, Penicillium marneffei Basal cell nevus syndrome* BCCs Pink or skin-colored papules, tag-like Trichoepitheliomas* Pink or skin-colored papules, no umbilication

The most likely diagnosis is: A. Acne and warts B. Birt-Hogg-Dube syndrome C. Cowden syndrome D. Trichoepitheliomas E. Tuberous sclerosis

Tuberous sclerosis Autosomal dominant (up to 75% spontaneous mutations) TSC1 - hamartin TSC2 - tuberin Facial angiofibromas, hypopigmented macules, fibrous facial plaques, collagenomas, and gingival/periungual fibromas Hamartomas: brain, eyes, kidney, heart, lungs Facial angiofibromas, collagenomas, gingival papules, CALMs, and hypomelanotic macules also in multiple endocrine neoplasia type 1 (MEN 1)

Collagenoma Hypopigmented macule

Birt-Hogg-Dube syndrome* Fibrofolliculomas, trichodiscomas, acrochrodons Cowden syndrome* Trichlemmomas None tend to give periungual lesions

Teenager with asymptomatic lesions on both soles. The most likely diagnosis is: A. Palmoplantar punctate keratoderma B. Pits of basal cell carcinoma nevus syndrome C. Pitted keratolysis D. Plantar hypokeratosis E. Plantar warts

Pitted Keratolysis 1 to 7-mm crater-like depressions or erosions in the stratum corneum of weight-bearing areas of the soles> palms (may coalesce) Occlusion hyperhidrosis, malodorous Caused by Kytococcus sedentarius (formerly Micrococcus sedentarius), a corynebacterium K sedentarius produces Serine proteases that degrade keratin Malodorous sulfur-containing compounds Treatment: topical erythromycin or clindamycin and measures to decrease hyperhidrosis

Punctate keratoderma Firm, small, round papules Pits of basal cell nevus syndrome* Plantar warts* Usually see punctate hemorrhage from superficial capillaries in wart

The most likely diagnosis is: A. Klippel-Trenaunay syndrome B. Infantile hemangioma C. Cutis marmorata telangiectatica congenita D. Angiokeratoma E. Angiosarcoma

Klippel-Trenaunay Syndrome Sporadic condition Triad of a capillary malformation, venous +/- lymphatic malformation, and bony and/or soft tissue hypertrophy usually affecting one limb MRI and venography can help evaluate extent Treatment: compression garments, laser if superficial, aspirin or anticoagulants, sclerotherapy, and sometimes surgery

Cutis marmorata telangiectatica congenita* Reticulate, well-defined vascular stain, may be atrophic or ulcerated May have hypo/hypertrophy of ipsilateral limb Infantile hemangioma* Vascular red plaque or nodule No soft tissue or bone changes

Angiokeratoma* Dark red to purple papule or plaque with usually a hyperkeratotic surface Angiosarcoma* Red to purple plaque, de novo or secondary to radiation or chronic lymphedema

The most likely diagnosis is: A. Congenital malalignment of the nails B. Lichen planus C. Pachyonychia congenita D. Trachyonychia E. Yellow nail syndrome

Yellow Nail Syndrome Yellow, thickened, curved fingernails and toenails with almost loss of nail growth, loss of cuticles, and possible onycholysis Associated with chronic respiratory disorders (bronchiectasis, plural effusion, chronic bronchitis, malignant neoplasms) and primary lymphedema Treatment: may be permanent or improve spontaneously

Congenital malalignment of the nails Lateral deviation of great toenail plates with thickening, transverse ridging, and discoloration of nails Lichen planus* Ridging, pterygium

Trachyonychia* Longitudinal ridging, roughening Pachyonychia congenita Subungal hyperkeratosis, pincer nails

The most likely diagnosis is: A. Congenital melanocytic nevus B. Congenital smooth muscle hamartoma C. Connective tissue nevus D. Mastocytoma E. Steatocystoma

Mastocytoma Yellow-tan to reddish-brown macule, papule, nodules, or plaque made up of mast cells Can look like CALMs or peau d orange appearance Trunk> extremities> neck/face Darier s sign urtication with firm stroking, positive in 90% Cutaneous flushing can occur spontaneously, after stroking, or ingestion of a mast cell degranulating agent Most resolve without sequelae in several years Treatment: topical steroids, oral antihistamines, montelukast, cromolyn (GI symptoms), rarely systemic steroids

Congenital smooth muscle hemartoma Connective tissue nevus

2 year old female with unchanged lesion since birth. The most likely diagnosis is: A. Ecchymosis B. Melanoma C. Mongolian spot D. Nevus of Ito E. Nevus of Ota

Nevus of Ito More common in darker-skinned races Blue-gray patches on shoulder, neck, scapula, and deltoid region Due to failure of dermal melanocytes to reach the epidermis in fetus Melanocytes are more numerous and in upper dermis vs Mongolian spot where they are deeper and more sparse Treatment: observe, Q-switched Alex/ND:YAG laser

Mongolian spot Nevus of Ota

The most likely diagnosis is: A. Alopecia areata B. Aplasia cutis congenita C. Lichen planopilaris D. Neonatal lupus E. Temporal triangular alopecia

Aplasia Cutis Congenita Congenital defect, most often on the scalp Multifactorial and many different presentations: welldemarcated erosion, deep ulceration, firm or atrophic scar, membranous, bullous Most often solitary (70%) Hair Collar Sign indicates possible heterotopic brain tissue or meninges Usually isolated finding but may occur as part syndromes such as Adams-Oliver syndrome (CMTC, limb defects, CNS, cardiac), EB, fetus papyraceus, trisomy 13

Hair Collar Sign Congenital ring of hair that is usually denser, darker, and coarser than the normal scalp hair Highly suggestive of cranial dysraphism when encircling an exophytic scalp nodule at/near midline Image if suspect dysraphism, especially before a biopsy or excision- MRI is most sensitive modality to detect small cephaloceles with intracranial connections

Alopecia areata* Lacks yellow color, can show exclamation point hairs Lichen planopilaris* Hairs with surrounding redness and scale, scarring over time

Triangular alopecia Usually bitemporal, may have vellus hairs, considered lesions of focal dermal hypoplasia Can be associated with coarse and characteristic facial features and anomalies of eyelashes and eyebrows Setleis syndrome

The patient s mother has similar findings. The most likely diagnosis: A. Piebaldism B. Vitiligo C. Waardenburg syndrome D. Albinism E. Nevus depigmentosus

Piebaldism Autosomal dominant, mutation in c-kit Defect in cell proliferation and migration of melanoblasts Depigmented patches with hyperpigmented borders and sometimes normal or hyperpigmented skin within the depigmented patch Primarily on the mid forehead, neck, anterior trunk and mid extremities; white forelock is common Depigmentation is stable and permanent Patients are healthy and have a normal lifespan

Vitiligo*

5 year old boy with fever for 2 days. The most likely diagnosis is: A. Herpes zoster infection B. Erythema multiforme C. Kawasaki disease D. Hand-foot-and-mouth disease E. Pemphigus vulgaris

Hand-Foot-and-Mouth Disease Vesicles and red papules/macules on the mouth, hands, and feet Due to Enterovirus infection, usually Coxsackie virus A16 More often in the late summer/fall months Tends to affect young children May have fever, malaise, sore throat, loss of appetite, swollen lymph glands Treatment: self-limited illness, symptomatic care

Kawasaki disease Strawberry tongue, peeling of the lips Pemphigus vulgaris* Often larger and/or more widespread erosions, can include buccal and gingival areas

4 week old nontoxic female with blisters in mouth and skin for 4 weeks. The most likely diagnosis is: A. Tinea corporis B. Herpes simplex C. Recessive dystrophic epidermolysis bullosa D. Staph scalded skin E. Neonatal lupus

Recessive Dystrophic Epidermolysis Bullosa Autosomal recessive, mutation in COL7A1 (type 7 collagen) Recurrent blistering with resulting scarring involving mucous membranes, milia, and dystrophic nails Diagnose with electron microscopy, immunophenotyping or genetic analysis Routine light microscopy is less useful for diagnosis Complications: Pseudosyndactyly and joint contractures, anemia, poor growth, esophageal erosions/strictures conjunctivitis/keratitis, caries, risk of infection and SCCs

The most likely diagnosis is: A. Atopic dermatitis B. Scabies C. Eczema herpeticum D. Linear IgA E. Impetigo

Eczema Herpeticum Herpes type 1 or 2 infection in setting of atopic dermatitis Cluster of punched-out erosions and vesicles in areas of eczema May have fever, malaise, LAD, pain and pruritus Tzanck smear; DFA, PCR, viral culture Consult ophthalmology if involvement around or in the eye Treatment: Oral antivirals if localized and IV antivirals if extensive involvement, may consider IV treatment in young children and immunocompromised patients; acyclovir or valacyclovir are used

Atopic dermatitis* Scabies*

The most likely diagnosis is: A. Muir-Torre syndrome B. LEOPARD syndrome C. Peutz-Jegher syndrome D. Neurofibromatosis I E. Cowden syndrome

Peutz-Jegher Syndrome Autosomal dominant, mutation in STK11 (serine/threonine kinase 11) Mucocutaneous lentiginous macules most commonly on periorificial skin, lips, and buccal mucosa; all but buccal mucosal lesions fade with time Hemartomatous polyps in the small intestine>large intestine May have abdominal pain, GI bleeding, intussusception, obstruction or adenocarcinoma forming Increased frequency of ovarian, breast, and pancreatic cancer

LEOPARD syndrome Many lentigines on skin Neurofibromatosis I Axillary and inguinal freckling CALMs

The most likely diagnosis is: A. Nevus anemicus B. Vitiligo C. Tinea faciei D. Tinea versicolor E. Pityriasis alba

Pityriasis Alba Self-limited benign condition Characterized by ill-defined hypopigmented macules or patches that may have a fine scale Commonly affects kids, more apparent in darker skin Treatment: emollients, may us topical steroid if more inflammatory

Tinea versicolor* Scaly, hypopigmented or pink/orange macules Caused by Malassezia Nevus anemicus Hypopigmented macule or patch with surrounding erythema from vascular instability

The most likely diagnosis is: A. Dermatofibroma B. Sebaceous hyperplasia C. Juvenile Xanthogranuloma D. Spitz nevus E. Mastocytoma

The most likely diagnosis is: A. Dermatofibroma B. Sebaceous hyperplasia C. Juvenile xanthogranuloma D. Spitz nevus E. Mastocytoma

Juvenile Xanthogranuloma Pink to orange or yellow-tan firm, papule or nodule, 0.5 to 2 cm and occasionally larger or multiple Usually presents in first few years of life Histology shows dense dermal infiltrate of foamy histiocytes, foreign body cells, and characteristic Touton giant cells Benign and usually regresses over several years

Juvenile Xanthogranuloma Extracutaneous involvement: rare and <50% of patients with visceral involvement have cutaneous lesions Eye is most common other organ of involvement Potential complications hyphema (blood in the front/anterior chamber of the eye), unilateral glaucoma, blindness Highest risk= less than 2 years of age, multiple skin lesions, periocular involvement The association of JXG with type 1 neurofibromatosis and risk of chronic myelogenous leukemia is debated

Dermatofibroma* Brown firm papule, dimple sign Sebaceous hyperplasia Usually few millimeters with a central dell

Spitz nevus* Red-brown, brown, or tan papule, melanocytic Mastocytoma* More tan-brown, Darier s sign

The most likely diagnosis is: A. Molluscum contagiosum B. Rocky mountain spotted fever C. Polymorphous light eruption D. Scabies E. Varicella

Varicella Prodrome of fever, malaise, and headache Most contagious during prodrome and first 3 days of eruption Red macule or papules that progresses to vesicles Dew drop on a rose petal Face, scalp, or trunk then to extremities Lesions in various stages of healing is pathognomonic Heal with dyspigmentation or scars Complications: Secondary bacterial infection, LAD, pneumonia, meningitis, encephalitis

Varicella Tzanck smear; DFA, PCR, viral culture Treatment with oral antivirals (acyclovir or valacyclovir) in patients who are at risk for moderate-severe disease Infants, chronic skin or lung disorders, receiving immune-modulating medications Treatment with IV antivirals in patients who are immunocompromised and high risk, VZIG recommended for susceptible high risk patients and pregnant women who are exposed

Rocky mountain spotted fever* Petechial eruption starts acrally Acral swelling Polymorphous light eruption* Papules and patches on sunexposed sites, usually spares the face

The most likely diagnosis is: A. Congenital herpes B. Incontinentia pigmenti C. Epidermal nevus D. Goltz syndrome E. Langerhans cell histiocytosis

Incontinentia Pigmenti Bloch-Sulzberger disease X-linked dominant, mutation in NEMO (NF-kB essential modulator) Typically a male-lethal disease, females survive due to selective X inactivation with proliferation of normal cells Other abnormalities: sparse, wiry hair; teeth (pegged/ conical, delayed eruption); abnormal nails (dystrophy, keratotic tumors); neurologic (mental retardation, seizures); ophthalmologic (vision loss, retinal vasoocclusive events)

Incontinentia Pigmenti Skin lesions in blaschkoid distribution, progress through 4 stages though may overlap or even skip stages Inflammatory/vesicular: present at birth or within first 2 weeks, can last several months Verrucous: first few weeks to months, can last up to 2 years Hyperpigmented: progress in first few months of life then stable, many then fade by adolescence Hypopigmentation: can have atrophy, adolescence to adulthood

Epidermal nevus Goltz syndrome

The most likely diagnosis is: A. Bullous impetigo B. Linear IgA C. Jacquet dermatitis D. Langerhans cell histiocytosis E. Varicella

Bullous Impetigo Flaccid bullae or tender shallow erosions with a ring of scale (blister roof remnant) Staph aureus is usually the cause Exfoliative exotoxin targets desmoglein 1, cleaves epidermis at the stratum corneum Bacterial culture should be done Treatment with an oral antibiotic, treatment for carriage with mupirocin and bleach baths in patients with recurrence Nonbullous impetigo can be due to Staph aureus or Group A beta-hemolytic Strep; glomerulonephritis and scarlet fever can follow GABHS skin infections

Linear IgA* Bullae often in an annular arrangement Langerhans cell histiocytosis* Usually purpuric papules/vesicles coalescing into plaques on flexures and scalp, may have petechiae